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GENATLAS PHENOTYPE

last update : 10-09-2011

Symbol	PCLD1
Location	19p13.2
Name	polycystic liver disease 1
Corresponding gene	PRKCSH
Other symbol(s)	PCLD
Main clinical features	hepatobiliary fibropolycystic liver disease, without kidney involvement characterized by the presence of multiple cysts in the liver in the absence of polycystic kidneys (PMID: 20408955))
Genetic determination	autosomal dominant
Function/system disorder	digestive tract/liver and annex
Type	disease

Gene product

Name	hepatocystin

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown		truncated protein	1338-2A-->G truncating mutation producing a protein not retained in the endoplasmic reticulum but secreted into the medium and failing to assemble with the glucosidase II alpha subunit

Remark(s)

. mutations in PRKCSH and SEC63 result in impaired protein biogenesis and quality control and lead to formation of misfolded proteins that undergo retro-translocation and degradation using proteasome-mediated mechanisms proteasome inhibition increases steady-state levels of PKD1 in cells lacking PRKCSH and treatment with a proteasome inhibitor reduces cystic disease in orthologous gene models of human autosomal dominant polycystic liver disease (PMID: 21685914))